A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5378686



Internal ID8470421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44504843..44506640hg38UCSC Ensembl
Outerchr4:44506860..44508657hg19UCSC Ensembl
Outerchr4:44201617..44203414hg18UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg381798
hg191798
hg181798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2429751
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5378686
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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